Rapid prenatal diagnosis of skeletal dysplasia using medical trio exome sequencing: Benefit for prenatal counseling and pregnancy management.

Objective: The aim of this study is to explore the utility of rapid medical trio exome sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar.

Method: Pregnant women who were referred for genetic testing because of ultrasound detection of fetal abnormalities suggestive of a skeletal dysplasia were identified prospectively. Fetal samples (amniocytes or cord blood), along with parental blood, were send for rapid copy number variations testing and medical trio ES in parallel.

The role of ultrasound in women with a positive NIPT result for trisomy 18 and 13.

Objective: The aim of this study was to evaluate the usefulness of ultrasound in pregnancies with a positive non-invasive prenatal testing (NIPT) result for trisomy 18/13.

Materials And Methods: During a four-year period, the pregnant women who were referred for invasive genetic testing because of positive NIPT results for trisomy 18/13 were included in this study. An in-depth ultrasound was done for these patients before invasive procedures.

Transanal endoscopic microsurgery for radical resection of sigmoid cancer.

Purpose: This study aimed to investigate the efficacy and safety of transanal endoscopic microsurgery for radical resection of sigmoid cancer.

Methods: 91 patients with sigmoid cancer who underwent sigmoid cancer resection were divided to the Control Group (43 patients who underwent conventional laparoscopic surgery and pathological specimens were taken through the abdomen) and the Study Group (48 patients who were subjected to transanal endoscopic microsurgery and pathological specimens were taken through the anus). Comparisons were made about the operation time and the amount of surgical bleeding of the two groups, as well as the postoperative exhaust time and postoperative visual analogue score (VAS) of the two groups.

Prenatal detection of 1p36 deletion syndrome: ultrasound findings and microarray testing results.

Objective: Only a small number of reports have been made on the prenatal ultrasound findings observed in 1p36 deletion syndrome. We explored prenatal diagnosis of 1p36 deletion by ultrasound as well as chromosomal microarray (CMA), and delineated the fetal presentation of this syndrome.

Study Design: This was a retrospective analysis of 10 new prenatal cases of 1p36 deletion identified by CMA at a single Chinese medical center.

Icariin inhibits the growth of human cervical cancer cells by inducing apoptosis and autophagy by targeting mTOR/PI3K/AKT signalling pathway.

Purpose: Cervical cancer causes significant morbidity and mortality among women worldwide. The currently available treatment options are not efficacious and also create severe adverse effects. It is apparent that new therapeutic approaches are needed for this cancer.

Laparoscopic Management of Choledochal Cysts Associated with Aberrant Hepatic Ducts.

This study assessed the diagnostic protocol and the outcomes of laparoscopic aberrant hepatic duct (AHD) reconstruction in choledochal cyst (CC) surgery. From January 2010 to January 2018, 275 laparoscopic CC excisions were conducted in our hospital. Seven patients of CC with associated AHD were recorded.

A Gene Mutation Ameliorates the Severity of -Thalassemia: A Case Report.

Patients with the β/β type of β-thalassemia (β-thal) usually present as β-thal major (β-TM), and are transfusion-dependent. However, the clinical and hematological features of β-thal can be modulated by different modifiers, resulting in a wide range of clinical severity even in patients with the same genotypes. We report a Chinese family with twin brothers, both of whom had the same genotype of β/β.

Regulatory Single Nucleotide Polymorphism rs368698783 (G>A): a Genetic Modifier of Hb F Production Only under Erythropoietic Stress Characteristic for β-Globin Chain Deficiency?

A regulatory single nucleotide polymorphism (rSNP), the γ (+25 G>A) (rs368698783) (NG_000007.3: g47783G>A) located in the proximal promoter, is a significant predictor of clinical severity by elevating Hb F levels in β-thalassemia (β-thal). In this study, the presence of the γ (+25 G>A) and γ (+25 A>A) genotypes was investigated in four subgroups from a total of 611 subjects, including 88 α-thalassemia (α-thal) carriers (group A), 162 β-thal carriers of point mutations (group B), 57 carriers of β-thal deletions (group C) and 152 non thalassemic individuals (group D).

Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases.

To evaluate whether cell-free DNA (cfDNA) testing could replace an invasive procedure in pregnancies with isolated fetal omphalocele. This was a retrospective study of all pregnancies with sonographically detected fetal omphalocele at three tertiary referral centers between 2012 and 2016. Invasive diagnostic testing was performed for genetic investigations using conventional karyotyping or chromosomal microarray.

Prenatal diagnosis of 17q12 deletion syndrome: a retrospective case series.

The 17q12 deletion syndrome is a chromosomal anomaly resulting from the interstitial microdeletion of the long arm of chromosome 17. The aim of this study was to present the experience on prenatal diagnosis of 17q12 deletion to further define the prenatal phenotypes of this syndrome. Eleven pregnancies with foetal 17q12 deletion detected by chromosomal microarray (CMA) were retrospectively included at a single Chinese tertiary medical centre.

Results of Coexistence of β-Thalassemia Minor in Hb H Disease Patients.

The aim of this study was to determine the hematological characteristics in a large group of Hb H (β4) patients with or without a coexisting β-thalassemia (β-thal), identified by a thalassemia screening program in mainland China. A total of 361 patients with Hb H disease were found, including 343 with deletional types and 18 with nondeletional types. β-Thalassemia was found in 28 (7.

The indications for early prenatal diagnosis of trisomy 18: a 7-year experience at mainland China.

To report the experience with first-trimester prenatal detection of pregnancies complicated by trisomy 18. Proven cases of trisomy 18 identified between 11 and 14 weeks of gestation were retrospectively reviewed. Information on maternal demographics, prenatal sonographic findings, indications for prenatal diagnosis and chromosomal analysis results was obtained by reviewing medical records.

[Role of NRXN-NLGN-SHANK pathway gene variations in the pathogenesis of autism spectrum disorders].

Autism spectrum disorders (ASDs) comprise a group of common neurodevelopmental disorders whose pathogenesis remains unclear. More than 100 genes have been associated with ASDs, some of which have shown to play important roles in the development and function of synapses, a crucial step of information transmission between neurons. Studies have found abnormalities in synaptic transmission, density, and structures in the brains of autistic patients.

Analysis of the Genotypes in a Chinese Population with Increased Hb A and Low Hematological Indices.

Increased Hb A is considered the most reliable hematological finding for the identification of β-thalassemia (β-thal) carriers. The aim of this study was to determine the underlying genetic factors associated with a high Hb A level in a Chinese population. Subjects were recruited from couples preparing for pregnancy who participated in the thalassemia screening program during a 2-year period.

A cost-effectiveness analysis comparing two different strategies in advanced maternal age: Combined first-trimester screening and maternal blood cell-free DNA testing.

Objective: To estimate cost efficacy of first-trimester screening strategies based on nuchal translucency (NT) and maternal blood cell-free DNA (cfDNA) testing in women with advanced maternal age (AMA).

Materials And Methods: This was a retrospective population-based analysis of all pregnant women with AMA booked for combined first-trimester screening (cFTS) in China over a 3-year period. The assumed screening strategies were the following: cFTS (Strategy 1), cfDNA testing as a first-tier investigation replacing biomarkers after NT measurement (Strategy 2), and cfDNA testing combined with dating ultrasound for all women (Strategy 3).